ClinVar Miner

List of variants reported as benign for congenital non-bullous ichthyosiform erythroderma

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001378789.1(CERS3):c.1108A>G (p.Arg370Gly) rs2439928 0.98616
NM_001099287.2(NIPAL4):c.1116T>C (p.Val372=) rs4704870 0.97772
NM_001139.3(ALOX12B):c.1532+30T>C rs2289586 0.86344
NM_001139.3(ALOX12B):c.1655-30T>C rs12937410 0.85718
NM_001099287.2(NIPAL4):c.*1356T>C rs6556051 0.84570
NM_001378789.1(CERS3):c.159A>G (p.Arg53=) rs1354332 0.77863
NM_001378789.1(CERS3):c.999+60G>A rs12595207 0.69413
NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro) rs4713956 0.66570
NM_001099287.2(NIPAL4):c.451A>G (p.Arg151Gly) rs6860507 0.47353
NM_001099287.2(NIPAL4):c.*910A>T rs3822692 0.47331
NM_021628.3(ALOXE3):c.1685-117A>G rs2289587 0.43486
NM_021628.3(ALOXE3):c.*356A>C rs3809882 0.43006
NM_001378789.1(CERS3):c.845+53C>T rs12909732 0.42838
NM_001374623.1(PNPLA1):c.459C>T (p.Phe153=) rs2239795 0.42670
NM_021628.3(ALOXE3):c.1685-150G>A rs2289588 0.42468
NM_001139.3(ALOX12B):c.650+7C>G rs2304908 0.42027
NM_001139.3(ALOX12B):c.-155T>C rs2278635 0.41263
NM_001374623.1(PNPLA1):c.1268C>A (p.Pro423His) rs12199580 0.39557
NM_021628.3(ALOXE3):c.2124C>T (p.Ser708=) rs3809881 0.39411
NM_001374623.1(PNPLA1):c.776-35G>A rs10947600 0.39147
NM_001099287.1(NIPAL4):c.-10A>G rs1105282 0.37314
NM_001374623.1(PNPLA1):c.1469C>T (p.Thr490Met) rs12197079 0.28772
NM_001165960.1(ALOXE3):c.32C>T (p.Pro11Leu) rs3027232 0.27769
NM_001099287.2(NIPAL4):c.*782T>C rs3734029 0.27002
NM_001374623.1(PNPLA1):c.504+11C>T rs2239796 0.24754
NM_021628.3(ALOXE3):c.-300C>G rs3027229 0.14510
NM_001374623.1(PNPLA1):c.1595+511A>C rs12214296 0.13494
NM_001099287.2(NIPAL4):c.1172C>T (p.Ser391Leu) rs61743233 0.09106
NM_001374623.1(PNPLA1):c.1595+653G>A rs4713957 0.08088
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) rs34598813 0.07866
NM_001099287.2(NIPAL4):c.*1647T>C rs11749762 0.07540
NM_001099287.2(NIPAL4):c.*79C>T rs9313608 0.06391
NM_001099287.2(NIPAL4):c.*566C>A rs10476052 0.06380
NM_001099287.2(NIPAL4):c.*1733G>T rs11739062 0.05086
NM_001139.3(ALOX12B):c.42C>T (p.Leu14=) rs3027308 0.03900
NM_001099287.2(NIPAL4):c.*1140G>T rs74580303 0.03607
NM_001139.3(ALOX12B):c.-158G>T rs116492351 0.03320
NM_001374623.1(PNPLA1):c.715-9C>T rs73421652 0.02610
NM_021628.3(ALOXE3):c.785-14C>T rs113539426 0.02299
NM_021628.3(ALOXE3):c.-99C>G rs112227180 0.02269
NM_021628.3(ALOXE3):c.*111T>C rs75605551 0.02113
NM_021628.3(ALOXE3):c.1543A>G (p.Ile515Val) rs3027205 0.01586
NM_001374623.1(PNPLA1):c.1595+384G>C rs146627469 0.01401
NM_001099287.2(NIPAL4):c.*1221C>T rs78888263 0.01299
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_001374623.1(PNPLA1):c.1595+532G>C rs114437563 0.01107
NM_001374623.1(PNPLA1):c.1578A>C (p.Lys526Asn) rs35398989 0.01093
NM_021628.3(ALOXE3):c.680+9A>G rs3027214 0.01052
NM_021628.3(ALOXE3):c.555-14C>G rs116310580 0.01050
NM_021628.3(ALOXE3):c.2032C>T (p.Arg678Cys) rs143246503 0.01031
NM_001139.3(ALOX12B):c.280G>A (p.Gly94Ser) rs8077661 0.00924
NM_001374623.1(PNPLA1):c.1166T>C (p.Leu389Pro) rs59882043 0.00887
NM_021628.3(ALOXE3):c.2019C>T (p.Ala673=) rs148295244 0.00781
NM_021628.3(ALOXE3):c.148-11G>C rs114372253 0.00716
NM_001374623.1(PNPLA1):c.985T>C (p.Ser329Pro) rs78257597 0.00706
NM_021628.3(ALOXE3):c.*24A>G rs111342695 0.00658
NM_001374623.1(PNPLA1):c.691G>A (p.Ala231Thr) rs74946910 0.00397
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met) rs121434235 0.00230
NM_001139.3(ALOX12B):c.1533-11C>G rs199760981 0.00167
NM_001139.3(ALOX12B):c.222C>T (p.Tyr74=) rs74896368 0.00071
NM_001139.3(ALOX12B):c.*66C>T rs74252603 0.00064
NM_001374623.1(PNPLA1):c.1595+340A>G rs375247045 0.00004
NM_001099287.2(NIPAL4):c.*804T>A rs80315032
NM_001139.3(ALOX12B):c.147+59_147+60del rs112884117
NM_001378789.1(CERS3):c.*75C>A rs1023782
NM_021628.3(ALOXE3):c.*391C>A rs80115129
NM_021628.3(ALOXE3):c.1305+15del rs58194728
NM_173076.3(ABCA12):c.*1052_*1055dup rs71399158
NM_173483.4(CYP4F22):c.939+15_939+16del rs537649124

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